Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02087:Slc6a6'

279279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc6a6

Ensembl Gene

ENSMUSG00000030096

Gene Name

solute carrier family 6 (neurotransmitter transporter, taurine), member 6

Synonyms

Taut

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02087

Quality Score

Status

Chromosome

Chromosomal Location

91661031-91736044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91712160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 230 (V230I)

Ref Sequence

ENSEMBL: ENSMUSP00000032185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032185]

AlphaFold

O35316

Predicted Effect

probably benign
Transcript: ENSMUST00000032185
AA Change: V230I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: V230I

Domain	Start	End	E-Value	Type
Pfam:SNF	41	568	1.2e-241	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205443

Predicted Effect

probably benign
Transcript: ENSMUST00000205663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205764

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asl	C	T	5: 130,040,442 (GRCm39)	W450*	probably null	Het
Copg1	T	C	6: 87,879,192 (GRCm39)	Y413H	possibly damaging	Het
Ctsll3	G	T	13: 60,947,423 (GRCm39)	H254Q	possibly damaging	Het
Ebf2	A	G	14: 67,665,545 (GRCm39)	T568A	probably benign	Het
Etnppl	C	A	3: 130,420,194 (GRCm39)	S8R	probably benign	Het
Fry	C	A	5: 150,327,059 (GRCm39)	N1248K	probably benign	Het
Gpr55	A	C	1: 85,868,969 (GRCm39)	I204S	probably damaging	Het
Hyal5	T	A	6: 24,876,724 (GRCm39)	M199K	probably damaging	Het
Ighg2c	T	C	12: 113,248,986 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,122,413 (GRCm39)	D542G	probably damaging	Het
Itgb2	T	G	10: 77,395,530 (GRCm39)	Y544D	possibly damaging	Het
Lamb2	A	G	9: 108,364,318 (GRCm39)	N1086D	possibly damaging	Het
Lhx2	C	T	2: 38,258,849 (GRCm39)		probably benign	Het
Nlrp4c	T	G	7: 6,095,582 (GRCm39)	L820R	probably damaging	Het
Or5p68	T	A	7: 107,946,173 (GRCm39)	H5L	probably benign	Het
Phf20l1	C	T	15: 66,500,840 (GRCm39)	S578F	probably damaging	Het
Pramel23	A	T	4: 143,423,644 (GRCm39)	Y382N	probably damaging	Het
Ptpn3	A	T	4: 57,222,019 (GRCm39)	D557E	probably damaging	Het
Stap2	T	C	17: 56,312,473 (GRCm39)	H20R	probably damaging	Het
Sult1c2	T	C	17: 54,279,068 (GRCm39)	T83A	possibly damaging	Het
Tspyl2	A	T	X: 151,122,103 (GRCm39)	D501E	probably damaging	Het
Unc13b	A	G	4: 43,091,270 (GRCm39)	K32R	probably null	Het
Wnt3	G	A	11: 103,703,185 (GRCm39)	A223T	probably benign	Het
Zfpm2	A	T	15: 40,966,517 (GRCm39)	N869Y	probably damaging	Het
Zranb1	T	C	7: 132,575,146 (GRCm39)		probably benign	Het

Other mutations in Slc6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Slc6a6	APN	6	91,718,151 (GRCm39)	intron	probably benign
IGL01829:Slc6a6	APN	6	91,712,170 (GRCm39)	missense	probably damaging	1.00
IGL01896:Slc6a6	APN	6	91,703,050 (GRCm39)	missense	probably damaging	0.97
IGL02301:Slc6a6	APN	6	91,703,037 (GRCm39)	missense	probably benign	0.31
IGL02439:Slc6a6	APN	6	91,726,808 (GRCm39)	missense	probably damaging	0.99
IGL02555:Slc6a6	APN	6	91,725,311 (GRCm39)	unclassified	probably benign
animas	UTSW	6	91,716,995 (GRCm39)	splice site	probably null
customary	UTSW	6	91,703,224 (GRCm39)	nonsense	probably null
durango	UTSW	6	91,700,452 (GRCm39)	missense	probably damaging	1.00
habit	UTSW	6	91,717,952 (GRCm39)	missense	probably damaging	1.00
R5861_Slc6a6_905	UTSW	6	91,718,014 (GRCm39)	missense	probably damaging	1.00
R6665_Slc6a6_931	UTSW	6	91,703,020 (GRCm39)	missense	probably benign	0.38
R0530:Slc6a6	UTSW	6	91,701,939 (GRCm39)	missense	probably null	0.04
R1327:Slc6a6	UTSW	6	91,703,016 (GRCm39)	missense	probably benign	0.00
R1503:Slc6a6	UTSW	6	91,717,973 (GRCm39)	missense	probably damaging	1.00
R1612:Slc6a6	UTSW	6	91,718,008 (GRCm39)	missense	probably damaging	1.00
R2033:Slc6a6	UTSW	6	91,701,891 (GRCm39)	missense	probably benign	0.12
R2146:Slc6a6	UTSW	6	91,712,161 (GRCm39)	missense	probably benign	0.05
R2309:Slc6a6	UTSW	6	91,703,177 (GRCm39)	missense	possibly damaging	0.63
R2434:Slc6a6	UTSW	6	91,712,193 (GRCm39)	missense	probably benign	0.33
R2656:Slc6a6	UTSW	6	91,718,029 (GRCm39)	missense	probably damaging	1.00
R3402:Slc6a6	UTSW	6	91,703,110 (GRCm39)	missense	probably benign
R3403:Slc6a6	UTSW	6	91,703,110 (GRCm39)	missense	probably benign
R3978:Slc6a6	UTSW	6	91,732,033 (GRCm39)	missense	probably benign	0.41
R4236:Slc6a6	UTSW	6	91,718,257 (GRCm39)	missense	probably damaging	0.98
R4332:Slc6a6	UTSW	6	91,700,452 (GRCm39)	missense	probably damaging	1.00
R4980:Slc6a6	UTSW	6	91,703,041 (GRCm39)	missense	probably damaging	1.00
R5326:Slc6a6	UTSW	6	91,712,170 (GRCm39)	missense	probably damaging	1.00
R5358:Slc6a6	UTSW	6	91,712,155 (GRCm39)	missense	probably benign	0.28
R5542:Slc6a6	UTSW	6	91,712,170 (GRCm39)	missense	probably damaging	1.00
R5774:Slc6a6	UTSW	6	91,721,981 (GRCm39)	missense	probably damaging	1.00
R5839:Slc6a6	UTSW	6	91,700,298 (GRCm39)	missense	probably damaging	1.00
R5861:Slc6a6	UTSW	6	91,718,014 (GRCm39)	missense	probably damaging	1.00
R5939:Slc6a6	UTSW	6	91,731,929 (GRCm39)	missense	probably benign	0.01
R6160:Slc6a6	UTSW	6	91,716,995 (GRCm39)	splice site	probably null
R6262:Slc6a6	UTSW	6	91,732,013 (GRCm39)	missense	possibly damaging	0.66
R6265:Slc6a6	UTSW	6	91,731,896 (GRCm39)	missense	probably damaging	0.99
R6665:Slc6a6	UTSW	6	91,703,020 (GRCm39)	missense	probably benign	0.38
R6998:Slc6a6	UTSW	6	91,729,419 (GRCm39)	missense	probably benign	0.21
R7057:Slc6a6	UTSW	6	91,718,248 (GRCm39)	missense	probably damaging	1.00
R7568:Slc6a6	UTSW	6	91,701,832 (GRCm39)	missense	probably damaging	1.00
R7768:Slc6a6	UTSW	6	91,716,946 (GRCm39)	missense	probably damaging	0.99
R8042:Slc6a6	UTSW	6	91,718,226 (GRCm39)	missense	probably benign	0.11
R8125:Slc6a6	UTSW	6	91,703,087 (GRCm39)	missense	probably damaging	0.97
R8194:Slc6a6	UTSW	6	91,717,952 (GRCm39)	missense	probably damaging	1.00
R8239:Slc6a6	UTSW	6	91,701,951 (GRCm39)	missense	probably benign	0.00
R8343:Slc6a6	UTSW	6	91,703,224 (GRCm39)	nonsense	probably null
R8363:Slc6a6	UTSW	6	91,727,277 (GRCm39)	missense	probably benign	0.03
R8836:Slc6a6	UTSW	6	91,725,444 (GRCm39)	missense	probably damaging	0.96
R9102:Slc6a6	UTSW	6	91,731,940 (GRCm39)	missense	probably benign	0.10
R9257:Slc6a6	UTSW	6	91,716,952 (GRCm39)	missense	possibly damaging	0.74
R9511:Slc6a6	UTSW	6	91,721,921 (GRCm39)	missense	probably damaging	1.00
R9526:Slc6a6	UTSW	6	91,726,808 (GRCm39)	missense	probably benign	0.02
R9701:Slc6a6	UTSW	6	91,700,478 (GRCm39)	missense	probably damaging	1.00
X0002:Slc6a6	UTSW	6	91,700,457 (GRCm39)	missense	probably damaging	1.00
X0063:Slc6a6	UTSW	6	91,718,205 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16